Blood Cancer - JAK2 - Autoimmune- Confusion

Posted by pinkflamingo @pinkflamingo, Apr 1, 2023

This is incredibly long...please forgive me for it. I'm just feeling very lost. I am 39, female.
Since at least 2016, I have had confusing symptoms that my doctor continued to send me to rheumatology for. The fourth rheumatologist told me in Feb. that he did not think my symptoms were related to an autoimmune issue. He recommended that I see a hematologist and that he personally felt it pointed more towards a blood disorder or blood cancer.
This was the first time this had ever been discussed as something other than autoimmune, even though I never had a definitive diagnosis.

I went to see a hematologist/oncologist. She seemed very dismissive. She said that I was simply too young to have a blood cancer, but that she would order all of the typical blood tests. The JAK2 genetic test came back positive. When she communicated the results, she said that because it came back positive, even though she thinks that it's too small of an amount to be important, she has to do her due diligence and do a bone marrow biopsy and aspiration, which will occur in just over a week.

When I talked to my doctor yesterday, she said that even if I were to have a blood cancer, she doesn't think it would cause the severity of symptoms I've been experiencing and wants me to go back to rheumatology, anyway.

I am tired and confused and feel like the people around me who are supposed to know more seem to know nothing at all, either. After scouring the research on blood cancer symptoms, as well as what the JAK2 mutation is, it does seem feasible to me that it could all fall under the blood cancer umbrella.

These are the symptoms I've been dealing with - rheumatology has ruled out R.A., which is what they've been throwing around to explain my blood tests for years.

- Enlarged spleen on scans in 2016, 2018, and confirmed again by hematologist/oncologist at this recent visit. Causes discomfort/fullness.
- High platelets since at least 2016, they've steadily increased over the years, and are around 600 K/UL currently.
- Elevated white blood count since at least 2016, typically slightly elevated CRP and sed rate is sometimes off.
- I cannot see what prior numbers are, but my last tests in Oct. and March show low MCH and MCHC - iron and ferritin are normal. My "Absolute Immature Granulocyte" value for those last two blood tests is .1 K/UL when the "standard range" is 0 - 0.03 K/UL (I'm having a hard time understanding what that means, so that's what it says.)
- I have had steadily worsening itching, redness/ heat all over my body, especially on my thighs, chest, and arms/hands. I MUST take zyrtec every day or it is unbearable.
- I have pain in both shoulders, knees, hips, and severely in my hands. My chest hurts on both sides above my breasts, regularly. I get pain in the pads on my hands and feet as well. There is visible swelling in my hands, especially. My left hand has undergone carpal tunnel surgery, and I have similar issues, still. Both hands are in various states of burning/tingling/numb...they hardly work at all (this is audio transcribed because typing is saved for work tasks.)
- I have been having severe dizzy spells that can last anywhere from a couple hours to a full day. I physically cannot walk, have a headache, feel sick, and it feels like an ocean is pushing on my head. When this first happened a couple years ago, I went to urgent care the next day, and they said I could have possibly had a mini-stroke, but it was really too late for them to really see or do anything, and I seemed fine then. After it started occurring more, my doctor put me on a blood pressure med, as it seems to correlate with severe blood pressure spikes.
- Nothing heals fast or at all...I have broken blood vessels in my eye that have been there for three months, now. Random purple spots on my stomach that are just there. If I get physically sick, I am very ill. I was hospitalized with pneumonia after a simple cold. Can't shake sinus infections, etc.
- I have difficulty regulating body temperature. I feel hot and flush, then I'm freezing, then I'm sweating.
- I have extreme fatigue. Sleep studies have shown no sleep issues, sleep apnea, etc.
- I was kicked in the stomach by my young son and wouldn't stop bleeding vaginally. I went to ER. They sent me home with no explanation, though this is where the 2018 enlarged spleen scan took place.
- Though the doctor has said there is no familial links, my brother had a pulmonary embolism on a morning jog in his 30s. My grandfather died of an unspecified blood cancer.
- My periods are weird...I spot for a week or more prior then have giant clots for a day or two.
- I bled profusely during intimacy a couple months ago and have been afraid to try again.

Anyone with a blood cancer weigh in on if these feel reasonable to them? Anyone with an autoimmune issue in addition?
What about the JAK2 and consistently high platelets? I am confused that the hematologist/oncologist still seems dismissive.

Thank you SO MUCH for your thoughts/ experiences.

Interested in more discussions like this? Go to the Blood Cancers & Disorders Support Group.

arti4 | @arti4 | Apr 2, 2023

Dear @pinkflamingo, so sorry you are going through all of this. The only thing I can tell you is to find an MPN specialist. I was not happy with the dismissive nature of my first hematologist and was able to find an MPN specialist in a nearby city. He made all the difference in the world for me. Good luck and blessings!

pinkflamingo | @pinkflamingo | Apr 2, 2023

In reply to @ttown "Dear PinkFlamingo, Wow!! Sorry for what you are going through. I had the JAK2 blood work..." + (show)

@ttown

Dear PinkFlamingo,

Wow!! Sorry for what you are going through. I had the JAK2 blood work done because I kept having platelets in the 600 level. I was not feeling sick, but I knew with that level, something was not right. My very astute nurse practitioner was the person to look into this and request the JAK2 test. Bam! She found the culprit and immediately sent me to an Oncologist/Hematologist who agreed with her findings. He put me on Hydroxyurea and a low dose aspirin, to offset the possibility of blood clots and stokes, and ordered a bone marrow test two weeks later, which confirmed Essential Thrombocythemia. Since being on the medication, and by the time I had the bone marrow test, my platelet count went down to the normal range. Unfortunately I had a reaction of getting multiple mouth sores, both fever blisters on my lips, and canker sores within my mouth. The Hematologist took me off the Hydroxyurea for 5 days, then started me back at 4 times a week. That has worked beautifully for me. My understanding of blood cancers is that it is an incredibly frustrating situation to find the balance and proper control. I fervently hope you continue to pursue this avenue you are on, and eventually gain that balance. It sounds as if you definitely have additional issues and like you, I had felt so dismissed by my Primary care physician....because of my age (77) - he said it was an age issue. That nurse practitioner was my saving grace. She investigated multiple things and ordered multiple blood tests, and after ordering the JAK2 test, we finally got the answer. I am feeling much better since that time during this past fall. I am new to this diagnosis and I am so thankful for the nurse practitioner and her interest in finding an answer. I go to her almost exclusively now, except for the required 1 time a year required by Medicare, when I see my Primary Care Physician. I am saying all this to encourage you to continue your pursuit of finding answers. It took me two years. Praying for all your questions and issues to be resolved.

Ginger

Jump to this post

Thank you for the feedback, Ginger!!!

pinkflamingo | @pinkflamingo | Apr 2, 2023

In reply to @arti4 "Dear @pinkflamingo, so sorry you are going through all of this. The only thing I can..." + (show)

Thank you!

pinkflamingo | @pinkflamingo | Apr 2, 2023

In reply to @ejrquast "Those of us with the JAK2 mutation, who have also been diagnosed with a blood disorder..." + (show)

Much appreciated! I think that's part of it. I'm in NH and I just don't think it's something they've dealt with.

pinkflamingo | @pinkflamingo | Apr 2, 2023

In reply to @jackiecarey "Ive just been diagnosed with the JK2 gene mutation a few months ago. I'm 75 ...." + (show)

@jackiecarey

Ive just been diagnosed with the JK2 gene mutation a few months ago. I'm 75 . I'm a retired nursing Director of Trauma, very aware. always have kept up with the medical information. I noticed a few years ago that my red cell, hematocrit, hemoglobin and platelets kept creeping up. My family Doctor regular response was dehydration. After a TIA and emergency visit, I had the gold standard check up, they found nothing. But I noticed on CBC that the hemoglobin/hematocrit and platlets were now pass the normal range. I decided enough and to make an appointment with a hematologist. He came in the room, sat down and said you don't have leukemia..I was stunned for two reasons, the blood work doesn't support leukemia and I was expecting nothing major was at work.. It was a surreal moment and I hardly heard what he said next. (my husband was with me) He said you have polycythemia Vera.. I had never heard of PV and after reading found it to be very rare..The blood testing came back positive for JK2..This doctor is very kind and I like him personally however, when I ask questions he uses words like transformative etc that throw me off. When I called him on it he said "I prefer using words like this rather than scare the pt. I asked him not to do it with me however he still does. So, I'm also a pt at MDAnderson downtown Houston for followup as I have a history of breast and bowel cancer.(all good) Ive requested a second opinion and will stay there where my treatment in the past has been phenomenal. I live in Houston, Texas and MDAnderson is close. You sound like you're in a quagmire with no way out; a couple of questions to think about, 1. where are you getting medical care? you're positive for Jk2 so you have it and sounds like not getting treatment, it needs to be managed or a good reason for not. It's very rare and most Dr.s have never had a pt with the PV diagnosis..I have a lawyer friend who was diagnosed with JK2 is her 30's and has it managed now into her 70's..I'm suggesting you go to a large well known institution like Mayo, MDAnderson etc. where they have specialist who deal with PV specifically...This seems to be effecting your everyday life and while you struggle....you seem to feel you're not being managed..2) There may be more than one diagnosis. I'm not a doctor and can't diagnose however my experience is PV is considered a blood cancer and needs to be managed and can be for many years...Consider going to a large, academic institution and settle this once and for all. you found your way to this site, excellent ..I'm not saying your current doctors are right or wrong , I'm saying you are concerned and this needs to be put to rest.

Jump to this post

Thank you for your response, Jackie! I am in NH, but my insurance currently won't cover the bigger Boston hospital systems...I'll keep pushing.

jackiecarey | @jackiecarey | Apr 2, 2023

In reply to @pinkflamingo "Thank you for your response, Jackie! I am in NH, but my insurance currently won't cover..." + (show)

Hello Pink Flamingo,

I understand medical insurance companies are difficult to navigaye among other issues. If you can get to the customer service at your insurance company and explain you have a rare cancer, polycythemia vera and difficulty getting care they will sometimes make exceptions...While your doing this continue care with the doctors you have while you wait...I'm so sorry your having such a struggle to get well..Another thought on this issue is call Sloane, Mayo, John Hopkins, Mass General etc. and ask their access centers if they have PV specialists. If they do then theirs research programs and they're looking for pts. Sometimes these hospitals will speak with your insurance company and help you..I'm glad your getting care while you wade through the insurance maze....

sregiani | @sregiani | Apr 3, 2023

Hi Pink Flamingo,
I call this "the scary club". Friends laugh at this and laughter is good - even though no one understands. My journey started out with vision problems a year ago, had cataract surgery and thought the surgeon was not as sharp (pun intended) as promoted. I've worn contacts most of my life, but lately it's been blurry vision to the point where night driving is hard. Totally hard, blurry, as if there is water on the road. Computer screen? I am constantly increasing the size of font.
Then there were the headaches, mild, and explainable. There has been a lot of stress over the past few months - a year really. Of course that made sense.
Call us "lucky". Neither of us have stroked out. Yea, not funny, but a good number do not learn they are JAK2 w/ET until either a stroke or routine bloodwork.
Have you tried this site? MPN Research Foundation
Lots of good info. Register and they'll send you clear explanations in a nice reference booklet.
Do an ONLINE SEARCH to find a different Hematologist. I like mine - he is taking it one step at a time, and he takes the time to explain everything to me. Keep looking - the good ones are out there. You might be able to find one who does virtual appointments.
Geez... I wish we could all get together for coffee or wine! Sometimes you just need a hug. Or a nap.
Best wishes,
Sherry

Colleen Young, Connect Director | @colleenyoung | Apr 3, 2023

In reply to @sregiani "Hi Pink Flamingo, I call this "the scary club". Friends laugh at this and laughter is..." + (show)

@sregiani, I noticed that you wished to post a URL to an MPN Research Foundation with your message to @pinkflamingo. You will be able to add URLs to your posts in a few days. There is a brief period where new members can't post links. We do this to deter spammers and keep the community safe. Clearly the link you wanted to post is not spam. Please allow me to post it for you.

- What is Essential Thrombocythemia (ET)? http://www.mpnresearchfoundation.org/essential-thrombocythemia-et/

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